Short stature-deafness-neutrophil dysfunction-dysmorphism syndrome
All Entries 2
Zentrum für Seltene Skeletterkrankungen im Kindes- und Jugendalter am Universitätsklinikum Köln
Uniklinik Köln Centrum für Seltene Erkrankungen Köln (CESEK)
Kerpener Straße 62
50937 Köln
- Paralytic facial malformation
- Acromelic dysplasia
- Hypochondroplasia
- Femur-fibula-ulna complex
- Brachydactyly-long thumb syndrome
- OBSOLETE: Peripheral dysostosis
- Rhizomelic chondrodysplasia punctata type 1
- Dysosteosclerosis
- Metachondromatosis
- Heart-hand syndrome
- Fibrous dysplasia of bone
- Osteogenesis imperfecta
- Achondroplasia
- Omodysplasia
- Multiple osteochondromas
Bundesverband Kleinwüchsige Menschen und ihre Familien (BKMF) e.V.
Leinestraße 2
28199
Bremen
- Isolated growth hormone deficiency type III
- Hypochondroplasia
- FGFR3-related chondrodysplasia
- Spondyloepiphyseal dysplasia and spondyloepimetaphyseal dysplasia
- Pseudoachondroplasia
- Achondroplasia
- Silver-Russell syndrome
- Seckel syndrome
- Laron syndrome
- Diastrophic dysplasia
- Thanatophoric dysplasia
- Non-acquired isolated growth hormone deficiency
- Spondyloepiphyseal dysplasia congenita
Parent facilities 0
Genetic Advices 0
Care facilities 1
Zentrum für Seltene Skeletterkrankungen im Kindes- und Jugendalter am Universitätsklinikum Köln
Uniklinik Köln Centrum für Seltene Erkrankungen Köln (CESEK)
Kerpener Straße 62
50937 Köln
- Paralytic facial malformation
- Acromelic dysplasia
- Hypochondroplasia
- Femur-fibula-ulna complex
- Brachydactyly-long thumb syndrome
- OBSOLETE: Peripheral dysostosis
- Rhizomelic chondrodysplasia punctata type 1
- Dysosteosclerosis
- Metachondromatosis
- Heart-hand syndrome
- Fibrous dysplasia of bone
- Osteogenesis imperfecta
- Achondroplasia
- Omodysplasia
- Multiple osteochondromas
Supportgroups 1
Bundesverband Kleinwüchsige Menschen und ihre Familien (BKMF) e.V.
Leinestraße 2
28199
Bremen
- Isolated growth hormone deficiency type III
- Hypochondroplasia
- FGFR3-related chondrodysplasia
- Spondyloepiphyseal dysplasia and spondyloepimetaphyseal dysplasia
- Pseudoachondroplasia
- Achondroplasia
- Silver-Russell syndrome
- Seckel syndrome
- Laron syndrome
- Diastrophic dysplasia
- Thanatophoric dysplasia
- Non-acquired isolated growth hormone deficiency
- Spondyloepiphyseal dysplasia congenita